Search Ontology:
Human Disease

retinitis pigmentosa 76

Term ID
DOID:0061103
Synonyms
  • RP76
Definition
A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34. https://pubmed.ncbi.nlm.nih.gov/27391550/
References
Ontology
Human Disease   ( DOID:0061103 )
Relationships
Other Pages
Genes Involved
Human Gene Zebrafish Ortholog OMIM Term Disease OMIM Phenotype ID
POMGNT1Retinitis pigmentosa 76retinitis pigmentosa 76617123
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Zebrafish Models